Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.R376L
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PCCB

NM_000532.5:p.R376L

Associated Papers

Neuropathological report of propionic acidemia.

Cao LX et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2023

[Phenotypes and genotypes of 78 patients with propionic acidemia].

Ma X et al.

Zhonghua Yu Fang Yi Xue Za Zhi [chinese Journal of Preventive Medicine], 2022

Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.

Liu Y et al.

Orphanet Journal of Rare Diseases, 2022

Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria.

Schumann A et al.

Journal of Inherited Metabolic Disease, 2021

Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.

Cappuccio G et al.

Jimd Reports, 2017

Mutation analysis in 54 propionic acidemia patients.

Kraus JP et al.

Journal of Inherited Metabolic Disease, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."